A kind of α-thalassemia gene detection kit

Abstract

The invention provides a kit capable of simultaneously detecting 6 deletion type alpha-thalassemia genes (-alpha<3.7>, -alpha<4.2>, --<SEA>, --<THAI>, --<FIL> and -alpha<27.6>) and 6 non-deletion type alpha-thalassemia genes (alpha<CS>alpha, alpha<QS>alpha, alpha<WS>alpha, alpha<13>alpha, alpha<43-44>alpha and alpha<49>alpha).The kit comprises a DNA chip, PCR reaction liquid I and PCR reaction liquid II, wherein the DNA chip comprises a substrate and probes fixed on the substrate.The kit has the advantages that the detection principle of PCR-reverse dot blot is used, the corresponding amplification primers and probes are designed according to the mutated or deleted sites of the genes, the probes are fixed on the DNA chip, and thalassemia is diagnosed through the hybridization of PCR products amplified by the specific primers and the probes fixed on the DNA chip and the interpretation of a signal developing box.

Description

technical field [0001] The invention belongs to the field of biotechnology, and relates to a kit for one-time experimental diagnosis of 12 α-thalassemia genes (including 6 deletion-type α-thalassemia genes and 6 non-deletion-type α-thalassemia genes) in clinical samples . Background technique [0002] Thalassemia (referred to as "thalassemia") is a heritable hemolytic blood disease caused by a defect in the globin gene, which reduces or fails the synthesis of globin chains, resulting in an imbalance in the ratio of the globin chains that form hemoglobin. There are two main types: α-thalassemia and β-thalassemia. However, the carrier rate of α-thalassemia is much higher than that of β-thalassemia. [0003] α-thalassemia (including deletion-type α-thalassemia and non-deletion-type α-thalassemia) is one of the most common monogenic genetic diseases in the world. Guangxi, Guangdong, Yunnan, Hainan, Hong Kong and other provinces and cities in southern China and Its surrounding...

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Problems solved by technology

In addition, double heterozygosity for non-deleted α-thalassemia and deleted α-thalassemia can also lead to HbH hydrops fetalis syndrome

[0020] At present, there is no one that can quickly and easily detect six deletion types (-α 3.7 , -α 4.2 、-- SEA 、-- THAI 、-- FIL and-alpha 27.6 ) and six non-deletion types (α CS α, α QS α, α WS α, α 13 α, α 43‐44 α and α 49 α) kit, and the current kit is very inconvenient to use, it is easy to cause missed detection, and the harm is huge

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